Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0019270
Disease: Hernia
Hernia 		136 0 9 5.2E-02 0 0
CUI: C1263023
Disease: Macroorchidism
Macroorchidism 		16 0 3 5.2E-02 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 0 11 5.1E-02 0 0
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		17 0 3 5.1E-02 0 0
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		60 0 5 5.0E-02 0 0
CUI: C0024236
Disease: Lymphedema
Lymphedema 		61 0 5 5.0E-02 0 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		40 0 4 4.9E-02 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 0 8 4.9E-02 0 0
CUI: C1879312
Disease: Agyria
Agyria 		20 0 3 4.8E-02 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 8 4.8E-02 0 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		91 0 6 4.6E-02 0 0
CUI: C0266111
Disease: Bifid tongue
Bifid tongue 		24 0 3 4.5E-02 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 0 5 4.5E-02 0 0
CUI: C3495949
Disease: Locally advanced breast cancer
Locally advanced breast cancer 		71 0 5 4.5E-02 0 0
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		25 0 3 4.5E-02 0 0
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		25 0 3 4.5E-02 0 0
CUI: C1333963
Disease: Carcinoid tumour of the liver
Carcinoid tumour of the liver 		2 0 2 4.4E-02 0 0
CUI: C2750748
Disease: Chromosome 17p13.3 Duplication Syndrome
Chromosome 17p13.3 Duplication Syndrome 		2 0 2 4.4E-02 0 0
CUI: C0426807
Disease: Short clavicle
Short clavicle 		26 0 3 4.4E-02 0 0
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		3 0 2 4.3E-02 0 0
CUI: C4021884
Disease: Bilateral choanal atresia/stenosis
Bilateral choanal atresia/stenosis 		3 0 2 4.3E-02 0 0
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1 		3 0 2 4.3E-02 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 9 4.3E-02 0 0
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		28 0 3 4.3E-02 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 10 4.3E-02 0 0